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Our EU expert centers
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Neurodevelopmental disorders (WG5)
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Fetal medicine and pathology (WG6)
Healthcare & CPMS (WG5)
Guidelines & consensus (WG11)
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APOGeE (WG9)
European Certificate (WG10)
Research & innovation (WG12)
Registries (WG7)
Our Research Activities
ILIAD RD register
Calls for collaboration
Publications
ITHACA Research Meeting
Guidelines
Methodology
ERN ITHACA Guidelines
Endorsed guidelines
Patient Journeys
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Online Genetics Course APOGeE
Survival guide to genetics
MOOC “Diagnosis Rare Diseases”
MOOC “bioinformatics”
Orphanet Updates
SysNDD Database
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Webinars
EuroDysmorpho 2024
EuroNDD 2024
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ERN-ITHACA Winter School
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Alazami syndrome
Occipital horn syndrome